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Centers for Mendelian Genomics: A decade of facilitating gene discovery

2022; Elsevier BV; Volume: 24; Issue: 4 Linguagem: Inglês

10.1016/j.gim.2021.12.005

1530-0366

Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban–Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci, Isabella Herman, Kurt N. Hetrick, Hadia Hijazi, Martha Horike‐Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael M. Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema R. Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López‐Giráldez, Melissa P. MacMillan, Brian Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Paulo Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David W. Mohr, Shaine A. Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie O’Leary, Chrissie M. Ongaco, Jordan S. Orange, Ikeoluwa Osei‐Owusu, Ingrid S. Paine, Lynn Pais, Justin Paschall, Karynne Patterson, Davut Pehli̇van, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, M. Cecilia Poli, Jaya Punetha, Aparna Radhakrishnan, M Richardson, Eliete da S. Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz J. Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer‐Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Paweł Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael E. Talkowski, Machiko Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Yi Qian, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Y. Zoghbi, Igna van den Veyver,

BRCA gene mutations in cancer

PurposeMendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.MethodsOver the past 10 years, the National Institutes of Health–supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.ResultsWe highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships and participating in widespread data sharing, the CMGs have created resources, tools, and training for the larger community to foster understanding of genes and genome variation. The CMGs have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelian Phenotypes (Geno2MP) and VariantMatcher.ConclusionThe work is far from complete; strengthening communication between research and clinical realms, continued development and sharing of knowledge and tools, and improving access to richly characterized data sets are all required to diagnose the remaining molecularly undiagnosed patients.